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Broad 1st metacarpal

MedGen UID:: 869669
•Concept ID:: C4024097
•: Finding

Synonym:	Wide 1st long bone of hand

HPO:	HP:0010027

Definition

Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBroad 1st metacarpal

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormal upper limb bone morphology
      - Abnormal metacarpal morphology
        Abnormal 1st metacarpal morphology
        Broad 1st metacarpal

Recent clinical studies

Etiology

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.

Armour CM, Bulman DE, Hunter AG
J Med Genet 2000 Apr;37(4):292-6. doi: 10.1136/jmg.37.4.292. PMID: 10745048 Free PMC Article

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Clinical resources

ClinicalTrials.gov

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Broad 1st metacarpal
Broad 1st metacarpal

MedGen
DOA4 ubiquitin-specific protease DOA4 [Saccharomyces cerevisiae S288C]
DOA4 ubiquitin-specific protease DOA4 [Saccharomyces cerevisiae S288C]
Gene ID:851641

Gene
ULS1 translocase ULS1 [Saccharomyces cerevisiae S288C]
ULS1 translocase ULS1 [Saccharomyces cerevisiae S288C]
Gene ID:854363

Gene
Mir100hg Mir100 Mirlet7a-2 Mir125b-1 cluster host gene [Mus musculus]
Mir100hg Mir100 Mirlet7a-2 Mir125b-1 cluster host gene [Mus musculus]
Gene ID:73144

Gene
Creld2 cysteine-rich with EGF-like domains 2 [Mus musculus]
Creld2 cysteine-rich with EGF-like domains 2 [Mus musculus]
Gene ID:76737

Gene

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